Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality in the UK, with a carrrrier frequency of 1 in 34 and an incident rate of approximately 1 in 4600 live births. SMA is caused by mutations in the survival motor neuron (SMN) gene. The SMN protein is a ubiquitously expressed RNA chaperone, playing a role in RNA transcription, splicing, translation and transport. Prior to joining Warwick my work focused on the normal physiological role of the SMN protein- particularly why motor neurones appear more sensitive to SMN levels than other cell types.
Since joining Warwick, in collaboration with Dr Felicity Boardman (Associate Professor, Warwick Medical School) I have concentrated on gaining evidence to support the implementation of a UK SMA Screening Programme. Our efforts are focused on addressing criterion 12 of the National Screening Committee's guidelines for new screening tests- namely addressing whether there is support within the UK SMA community and general public for pre-conception, prenatal or newborn screening programmes. These studies have been expanded to include other genetic disorders, including haemophilia, thalassemia, cystic fibrosis and fragile x syndrome.